Whaley Brian F
School of Medicine, University of North Carolina, Winston-Salem, NC 27127, USA.
Adv Neonatal Care. 2011 Apr;11(2):101-7. doi: 10.1097/ANC.0b013e318210d02c.
Familial hemophagocytic lymphohistiocytosis is a rare and inherited disease that affects both males and females equally and is most often fatal if not treated. Diagnosis is challenging because it mimics severe sepsis by demonstrating hepatomegaly, splenomegaly, persistent fever, central nervous system involvement, and cytopenias. The etiologies of hemophagocytic lymphohistiocytosis have been well established through the identification of 3 causative genetic mutations. Therapies for hemophagocytic lymphohistiocytosis focus on restoring health by diminishing the disease sequelae with a goal of hematopoietic stem cell transplant, the only known curative therapy for hemophagocytic lymphohistiocytosis. Current research is being conducted to identify other causative genetic mutations and newer, more effective treatment modalities.
家族性噬血细胞性淋巴组织细胞增生症是一种罕见的遗传性疾病，男女发病率相同，若不治疗通常会致命。诊断具有挑战性，因为它通过表现出肝肿大、脾肿大、持续发热、中枢神经系统受累和血细胞减少来模仿严重脓毒症。通过鉴定3种致病基因突变，噬血细胞性淋巴组织细胞增生症的病因已得到充分证实。噬血细胞性淋巴组织细胞增生症的治疗重点是通过减少疾病后遗症来恢复健康，目标是进行造血干细胞移植，这是已知的唯一可治愈噬血细胞性淋巴组织细胞增生症的疗法。目前正在进行研究以确定其他致病基因突变和更新、更有效的治疗方式。
